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CGTTGGTGATGCTCCAGTGCTGGCC[C/T]GAGCACTTCTGCAACACCAGCTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615136 | ||||||||||||||||||||
Literature Links: |
GALNT18 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GALNT18 - polypeptide N-acetylgalactosaminyltransferase 18 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_198516.2 | 2042 | Silent Mutation | TCA,TCG | S,S 592 | NP_940918.2 | |
XM_006718224.2 | 2042 | Silent Mutation | TCA,TCG | S,S 530 | XP_006718287.1 | |
XM_006718225.2 | 2042 | Intron | XP_006718288.1 | |||
XM_011520068.2 | 2042 | Silent Mutation | TCA,TCG | S,S 415 | XP_011518370.1 | |
XM_011520069.2 | 2042 | Intron | XP_011518371.1 | |||
XM_011520070.2 | 2042 | Intron | XP_011518372.1 | |||
XM_011520071.2 | 2042 | Intron | XP_011518373.1 |